中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2010年
41期
2939-2942
,共4页
肖斌%田伟%赵丹慧%吴成爱%王娜%张砚卓
肖斌%田偉%趙丹慧%吳成愛%王娜%張硯卓
초빈%전위%조단혜%오성애%왕나%장연탁
多态性,单核苷酸%椎间盘%金属基质蛋白酶抑制物-1
多態性,單覈苷痠%椎間盤%金屬基質蛋白酶抑製物-1
다태성,단핵감산%추간반%금속기질단백매억제물-1
Polymorphism,single nucleotide%Intervertebral disk%Tissue inhibitor of metalloproteinase-1
目的 探讨基质金属蛋白酶抑制物-1(TIMP-1)666C＞T单核苷酸多态性与腰椎间盘退变的关系.方法 青年男性,经MRI筛选分为退变组(48例)与非退变组(49例),提取全血基因组DNA,对TIMP-1第6外显子进行扩增并测序,发现并验证单核苷酸多态性的存在,并分析其与腰椎间盘退变的关系.结果 在测序结果中发现仅存在TIMP-1 666C＞T(rs11551797)多态性,且基因型均为纯合子.TIMP-1 666C＞T多态性在退变组与非退变组中相比存在统计学差异(x2=4.571,P=0.033),TT型(突变型)为腰椎间盘退变的危险因素(OR=3.269,95% CI 1.063～10.047).而对退变组分析,TIMP-1 666C＞T多态性与退变程度、退变节段位置及退变节段数量无明显相关性.结论 青年男性TIMP-1存在666C＞T单核苷酸多态性,腰椎间盘退变可能与其相关,而此基因多态性并不影响椎间盘退变发生的程度、位置及数量.
目的 探討基質金屬蛋白酶抑製物-1(TIMP-1)666C＞T單覈苷痠多態性與腰椎間盤退變的關繫.方法 青年男性,經MRI篩選分為退變組(48例)與非退變組(49例),提取全血基因組DNA,對TIMP-1第6外顯子進行擴增併測序,髮現併驗證單覈苷痠多態性的存在,併分析其與腰椎間盤退變的關繫.結果 在測序結果中髮現僅存在TIMP-1 666C＞T(rs11551797)多態性,且基因型均為純閤子.TIMP-1 666C＞T多態性在退變組與非退變組中相比存在統計學差異(x2=4.571,P=0.033),TT型(突變型)為腰椎間盤退變的危險因素(OR=3.269,95% CI 1.063～10.047).而對退變組分析,TIMP-1 666C＞T多態性與退變程度、退變節段位置及退變節段數量無明顯相關性.結論 青年男性TIMP-1存在666C＞T單覈苷痠多態性,腰椎間盤退變可能與其相關,而此基因多態性併不影響椎間盤退變髮生的程度、位置及數量.
목적 탐토기질금속단백매억제물-1(TIMP-1)666C＞T단핵감산다태성여요추간반퇴변적관계.방법 청년남성,경MRI사선분위퇴변조(48례)여비퇴변조(49례),제취전혈기인조DNA,대TIMP-1제6외현자진행확증병측서,발현병험증단핵감산다태성적존재,병분석기여요추간반퇴변적관계.결과 재측서결과중발현부존재TIMP-1 666C＞T(rs11551797)다태성,차기인형균위순합자.TIMP-1 666C＞T다태성재퇴변조여비퇴변조중상비존재통계학차이(x2=4.571,P=0.033),TT형(돌변형)위요추간반퇴변적위험인소(OR=3.269,95% CI 1.063～10.047).이대퇴변조분석,TIMP-1 666C＞T다태성여퇴변정도、퇴변절단위치급퇴변절단수량무명현상관성.결론 청년남성TIMP-1존재666C＞T단핵감산다태성,요추간반퇴변가능여기상관,이차기인다태성병불영향추간반퇴변발생적정도、위치급수량.
Objective To detect the single nucleotide polymorphisms(SNPs)in exon 6 of tissue inhibitor of metalloproteinase-1(TIMP-1)in young men in North China and to investigate the relationship between these polymorphisms and lumbar intervertebal disc degeneration. Methods The recruited subjects aged from 18 to 40 years old were divided by MRI into degeneration group(n = 48)and non-degeneration group(n = 49). The genomic DNA was collected from blood. After PCR amplification, the SNPs of TIMP-1 exon 6 were detected by DNA sequencing. Results Only the TIMP-1 666C ＞ T(rs11551797)polymorphism was observed and the genotype was of homozygote(CC/TT). The difference between two group was statistically significant(x2= 4. 571,P = 0. 033). Although the polymorphism was a synonymous mutation, the TT genotype mutant type was one of the risk factors for lumbar intervertebal disc degeneration(OR = 3. 269,95% CI 1. 063-10. 047). In the degeneration group, no significant correlation was found between the polymorphism, extent, level and number of degenerated intervertebal discs. Conclusion TIMP-1 666C ＞ T polymorphism present in north Chinese young men may lead to lumbar intevertebal disc degeneration. However it has no effect on the degree, level and number of degenerated intervertebal discs.
